Without treatment many affected children die before adolescence. However, at least half of children affected by the disease can be helped by haemopoietic stem cell transplantation (HSCT) using bone marrow, cord blood or peripheral blood stem cells from family or unrelated donors. This tends to be most widely used in patients with TCIRG1 mutations. Severe brain problems can develop some time after otherwise successful transplants in children with ClCN7 mutations and always develop in those with OSTM1 mutations. Transplantation therefore has an unclear role in ClCN7 disease and must not be performed in OSTM1 disease. It also does not work for children whose disease is caused by TNFSF11 mutations and has not been reported in ADO disease. Expert assessment and genetic analysis is therefore important if inappropriate transplantation is to be avoided. Injections of gamma interferon may be effective in alleviating some symptoms of the disease but are not widely used.